Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000887726 | SCV001031305 | likely benign | Hyperphosphatasia with intellectual disability syndrome 5 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000887726 | SCV001525589 | uncertain significance | Hyperphosphatasia with intellectual disability syndrome 5 | 2020-05-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |